Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study
| Autor: | Caroline Jones, Karen McLeod, Grazia Delle Donne, Orhan Uzun, Tara Bharucha, Graham Stuart, Elspeth Brown, Piers E.F. Daubeney, Katie Linter, Thomas Rance, Vinay Bhole, Ella Field, Elena Montanes, Juan Pablo Kaski, Elena Cervi, Gabrielle Norrish, Satish Adwani, Maria Ilina |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Pediatrics Neurology Ataxia Disease Left ventricular hypertrophy Sudden cardiac death Cohort Studies medicine Humans cardiovascular diseases Longitudinal Studies Child Retrospective Studies Heart Failure business.industry Hypertrophic cardiomyopathy Arrhythmias Cardiac Cardiomyopathy Hypertrophic medicine.disease Transplantation Death Sudden Cardiac Friedreich Ataxia Pediatrics Perinatology and Child Health Cohort cardiovascular system medicine.symptom business |
| Zdroj: | Archives of disease in childhood. 107(5) |
| ISSN: | 1468-2044 |
| Popis: | ObjectiveHypertrophic cardiomyopathy (HCM) is an important predictor of long-term outcomes in Friedreich’s ataxia (FA), but the clinical spectrum and survival in childhood is poorly described. This study aimed to describe the clinical characteristics of children with FA-HCM.Design and settingRetrospective, longitudinal cohort study of children with FA-HCM from the UK.Patients78 children (InterventionAnonymised retrospective demographic and clinical data were collected from baseline evaluation and follow-up.Main outcome measuresThe primary study end-point was all-cause mortality (sudden cardiac death, atrial arrhythmia-related death, heart failure-related death, non-cardiac death) or cardiac transplantation.ResultsThe mean age at diagnosis of FA-HCM was 10.9 (±3.1) years. Diagnosis was within 1 year of cardiac referral in 34 (65.0%) patients, but preceded the diagnosis of FA in 4 (5.3%). At baseline, 65 (90.3%) had concentric left ventricular hypertrophy and 6 (12.5%) had systolic impairment. Over a median follow-up of 5.1 years (IQR 2.4–7.3), 8 (10.5%) had documented supraventricular arrhythmias and 8 (10.5%) died (atrial arrhythmia-related n=2; heart failure-related n=1; non-cardiac n=2; or unknown cause n=3), but there were no sudden cardiac deaths. Freedom from death or transplantation at 10 years was 80.8% (95% CI 62.5 to 90.8).ConclusionsThis is the largest cohort of childhood FA-HCM reported to date and describes a high prevalence of atrial arrhythmias and impaired systolic function in childhood, suggesting early progression to end-stage disease. Overall mortality is similar to that reported in non-syndromic childhood HCM, but no patients died suddenly. |
| Databáze: | OpenAIRE |
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